Article
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Blood cells, molecules & diseases - 15 Apr 2011
Santos Paulo C J L, Cançado Rodolfo D, Pereira Alexandre C, Schettert Isolmar T, Soares Renata A G, Pagliusi Regina A, Hirata Rosario D C, Hirata Mario H, Teixeira Ana C, Figueiredo Maria Stella, Chiattone Carlos S, Krieger Jose E, Guerra-Shinohara Elvira M
Abstract excerpt
BACKGROUND: p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary hemochromatosis (HH). HH is also caused by mutations in other genes, such as the hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1). The low rate homozygous p.C282Y mutation in Brazil is suggestive that mutations in non-HFE genes may be linked to HH phenotype. AIM: To screen...
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